A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4058811



Internal ID11703063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:105324173..105324223hg38UCSC Ensembl
chr12:105717951..105718001hg19UCSC Ensembl
chr12:104242081..104242131hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1514742
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4058811
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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